ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500187
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000227629
RCV001012386
RCV001589166
RCV003469121
ClinVar Variation:
236675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala545Val
CA10582795
NM_000051.4:c.1634C>T